Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Plasma, obtained during plasma exchange therapy, from 3 euthyroid patients with Graves' disease and severe progressive exophthalmos induced an increase in heart rate and then early death when applied to foetal mouse hearts maintained in isolated organ culture. All plasma samples which induced an increase in foetal heart rate had high titres of thyroid stimulating immunoglobulins. Plasma samples obtained after exchange had a much diminished effect. These studies may indicate a previously unrecognized non-thyroidal action of the abnormal immunoglobulins associated with Graves' disease and suggest that chronic thyroid heart disease may be due, at least in part, to the effect of these immunoglobulins especially when not associated with elevated thyroid hormones concentrations.
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PMID:The effects of plasma from patients with Graves' disease on foetal mouse hearts in organ culture. 613 24

Rhino-orbital fungal infections are serious and life threatening complications of immunocompromised host. The authors reported two cases of rapid progressive proptosis and eyelid necrosis of immunocompromised patients who suffered from highly malignant T-celled lymphoblastic leukemia/lymphoma and congenital heart disease with multiple anomalies. Although early diagnosis was made and prompt treatments including medical and surgical interventions were performed, both patients died.
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PMID:Rhino-orbital fungal infection: two cases report. 2299 38

In Genetics Out-patient Department of Shanghai Children's Medical Center, we consulted a 3-year-old boy with multiple anomaly syndrome (congenital heart disease, cryptorchidism, congenital deafness, mental retardation, exophthalmos, laryngeal cartilage dysplasia and high arched palate). We ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs, and CHD7 is the only known gene associated with the syndrome. Sequencing analysis of CHD7 of the proband identified a de novo heterogeneous mutation (c.2916_2917del, p.Gln972HisfsX22), a two-nucleotide deletion causing reading frame shift and resulting in a truncated CHD7 protein. Computational structure analysis suggests that the truncated protein only contains the chromodomains of CHD7, but lacks the SWI2/SNF2-like ATPase/helicase domain and the DNA binding domain, which are indispensable for the proper function of the protein, especially on chromatin remodeling. The patient then received follow up treatment in different clinical departments in a long period. To our best knowledge, this is the first CHARGE syndrome in Chinese patients diagnosed by gene analysis. In summary, the clinical symptoms and the description of treatment in the present case, combined with genetic test and functional prediction of CHD7, are helpful for further understanding and genetic counseling of the CHARGE syndrome.
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PMID:A novel CHD7 mutation in a Chinese patient with CHARGE syndrome. 2560 31